Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1)

Confirmation of locus assignment and mutation screening of four candidate genes

Alessandra Rampazzo, Giorgia Beffagna, Andrea Nava, Gianluca Occhi, Barbara Bauce, Massimo Noiato, Cristina Basso, Gianfranco Frigo, Gaetano Thiene, Jeffrey Towbin, Gian Antonio Danieli

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) is an autosomal dominant disorder characterised by progressive degeneration of right ventricular myocardium, arrhythmias and risk of sudden death. By linkage analysis, we previously mapped the involved gene to chromosome 14q24.3. In the present study we report on linkage analysis of one additional and unrelated family, which enabled to confirm previous locus assignment. Another family is reported, in which genetic and clinical data suggest linkage to the same locus. Direct sequencing of DNA from individuals belonging to established ARVD1 families failed to detect causative mutations in exonic sequences of four genes (POMT2, TGFβ3, KIAAA1036 and KIAA0759) expressed in the heart and which defects could possibly induce plasma membrane instability or apoptosis, key features of ARVD pathogenesis.

Original languageEnglish (US)
Pages (from-to)69-76
Number of pages8
JournalEuropean Journal of Human Genetics
Volume11
Issue number1
DOIs
StatePublished - Jan 1 2003
Externally publishedYes

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Mutation
Information Storage and Retrieval
Sudden Death
DNA Sequence Analysis
Genes
Cardiac Arrhythmias
Myocardium
Chromosomes
Cell Membrane
Apoptosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) : Confirmation of locus assignment and mutation screening of four candidate genes. / Rampazzo, Alessandra; Beffagna, Giorgia; Nava, Andrea; Occhi, Gianluca; Bauce, Barbara; Noiato, Massimo; Basso, Cristina; Frigo, Gianfranco; Thiene, Gaetano; Towbin, Jeffrey; Danieli, Gian Antonio.

In: European Journal of Human Genetics, Vol. 11, No. 1, 01.01.2003, p. 69-76.

Research output: Contribution to journalArticle

Rampazzo, Alessandra ; Beffagna, Giorgia ; Nava, Andrea ; Occhi, Gianluca ; Bauce, Barbara ; Noiato, Massimo ; Basso, Cristina ; Frigo, Gianfranco ; Thiene, Gaetano ; Towbin, Jeffrey ; Danieli, Gian Antonio. / Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) : Confirmation of locus assignment and mutation screening of four candidate genes. In: European Journal of Human Genetics. 2003 ; Vol. 11, No. 1. pp. 69-76.
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AU - Bauce, Barbara

AU - Noiato, Massimo

AU - Basso, Cristina

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